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Nutritional assessment plays a pivotal role in individual development and represents a fundamental component in the early identification of nutritional challenges and imbalances in pediatric patients. Among the validated instruments in the literature, the STRONGkids tool is the most utilized. This study aimed to undertake the translation and transcultural validation of the STRONGkids tool. The STRONGkids tool underwent initial validation following the six-phase protocol outlined by Sousa and Rojjanasrirat, after which it was translated into Italian. The final Italian version of STRONGkids was then administered to a cohort of hospitalized children. Collected data underwent analysis to assess its psychometric properties. Through the initial five phases, an Italian version of the STRONGkids tool was developed, which is congruent with the original and widely utilized version. The sixth phase exhibited favorable intra-rater reliability (k = 0.92; 95% CI 0.87–0.97) and inter-rater reliability (k = 0.77; 95% CI 0.68–0.86). Conclusion: The validated Italian version of STRONGkids emerges as a crucial instrument for precise nutritional assessment during hospitalization, ensuring convenience and effectiveness for professionals. Our findings advocate for the adoption of STRONGkids as a tool for screening pediatric nutritional risk in Italy. STRONGkids represents a complementary tool alongside anthropometric evaluations for nurses. Recognizing its importance, nurses can enhance early identification and intervention in pediatric patients’ nutritional risk as part of routine care, fostering interdisciplinary collaboration for optimal patient outcomes. [ABSTRACT FROM AUTHOR]

Healthy carriers of BRCA1/2 pathogenic variants (PVs) may benefit from risk-reducing measures of proven efficacy. The main approach to identify these individuals is cascade testing, and strategies to support this complex process are under investigation. In Italy, cascade testing has received little attention; therefore, we analyzed the uptake and characteristics of BRCA1/2 cascade testing in families diagnosed with HBOC between 2017 and 2019 at two Italian genetics centers. All blood relatives aged 18 years or older at September 2022 and who could be involved in the first step of cascade testing (i.e., all the living relatives closest to the proband) were included. In addition to first-degree relatives, individuals who were second-, third- or fourth-degree relatives were included if the closest relative(s) was/were deceased. Overall, 213 families were included (103, Genoa; 110, Bologna). Most probands were women affected by breast and/or ovarian cancer (86.4%, Genoa; 84.5%, Bologna), and the branch segregating the PV was known/suspected in 62% of families (62.1%, Genoa; 60.9%, Bologna). Overall, the uptake of cascade testing was 22.8% (25.8%, Genoa; 19.9%, Bologna; OR = 0.59: 95%CI 0.43–0.82). It was strongly associated with female gender (OR = 3.31, 95%CI 2.38–4.59), age ≤ 70 years (< 30 years OR = 3.48, 95%CI 1.85–6.56; 30–70 years OR = 3.08, 95%CI 2.01–4.71), first-degree relationship with the proband (OR = 16.61, 95%CI 10.50-26.28) and segregation of the PV in both the maternal (OR = 2.54, 95%CI 1.72–3.75) and the paternal branch (OR = 4.62, 95%CI 3.09–6.91). These real-world data may be important to inform the design and implementation of strategies aimed at improving the uptake of HBOC cascade testing in Italy. [ABSTRACT FROM AUTHOR]

Undertaking presymptomatic or predictive genetic testing should involve a considered choice. Decisions regarding genetic testing for young adults have to be considered within the context of their key life stage, which may involve developing a career, forming partnerships and/or becoming parents. The aim of this study was to develop a theoretical model regarding the factors involved when young adults (18–30 years) undergo presymptomatic genetic testing for inherited cancer syndromes. The model evolved from synthesis of results of a sequential mixed methods study involving a systematic review, a qualitative study and a quantitative study. The resulting model shows that young adults at risk of inherited cancer syndromes are influenced by others to have testing and come to counselling with their decision already made. However, genetic counselling enhances their feelings of autonomy and integration of their genetic status into their lives. Our theoretical model could be a valid support during the genetic counselling process for young adults and their parents, as it may sensitise professionals to the specific needs of this population, including education and support to autonomous decision-making. Counselling approaches should be modified in this population: an inclusive, multi-step counselling process is needed, with timing and setting set according to the specific features of this sensitive population. [ABSTRACT FROM AUTHOR]